Fech^{tm1.1(FECH*)Emi}

Homologous recombination is used to a replace a region from the BspH1 site in exon 3 to BamH1 site in exon 4 of the mouse Fech gene with a 2.1 kb fragment from the human FECH gene that starts in exon 3 and ends in intron 4, followed by a loxP-flanked PGK neomycin cassette in the reverse orientation. The human FECH fragment contains a intronic c.315-48C polymorphism (substitution of C for T, also described as IVS3-48C), which creates an aberrant 3' splice site 63 nucleotides upstream of the normal site for exon 4, and is associated with erythropoietic protoporphyria (EPP). Cre-mediated recombination removed the downstream floxed neo cassette. (J:239515)